Open AccessSirolimus for the Treatment of Juvenile Polyposis in Childhood
Author(s) -
Rafael Martín-Masot,
Nerea Cardelo Autero,
Pilar Ortiz Pérez,
Encarnación Torcuato Rubio,
Luis Vázquez Pedreño,
Carmen Gallego Fernández,
Javier BlascoAlonso,
Víctor Manuel Navas-López
Publication year - 2021
Publication title -
acg case reports journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.112
H-Index - 4
ISSN - 2326-3253
DOI - 10.14309/crj.0000000000000646
Subject(s) - medicine , sirolimus , abdominal pain , disease , gastrointestinal tract , gastroenterology , juvenile , rare disease , dermatology , pediatrics , genetics , biology
Juvenile polyposis syndrome (JPS) is a rare disease with an autosomal dominant inheritance pattern characterized by the development of multiple hamartomatous polyps in the gastrointestinal tract. The most frequent signs and symptoms are recurrent abdominal pain, rectal bleeding, anemia, and iron deficiency. The treatment of JPS is symptomatic, requiring serial endoscopic polypectomies or intestinal resections in the most severe cases. We describe the clinical case of a patient with JPS with a childhood juvenile polyposis phenotype because of a mutation on the SMAD4 gene, who received treatment with sirolimus successfully.